The overall goal of this project is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).
This natural history study of patients with USH2A mutations will accelerate the development of outcome measures for clinical trials. Sensitive, objective outcome measures of retinal degeneration will greatly facilitate development of treatments for Usher syndrome patients. Together these approaches are expected to have an impact on understanding USH2A-related retinal degeneration, developing experimental treatment protocols, and assessing their effectiveness.
The goals and expected impact of this natural history study are to:
The primary objectives of the natural history study are to:
Some additional secondary objectives of this study include:
Usher Syndrome, Type 2A Retinitis Pigmentosa 39
Open to people ages 8 years and up
At least 2 pathogenic or likely pathogenic mutations in USH2A gene from a clinically certified lab report
Ocular Inclusion Criteria
Both eyes must meet all of the following:
History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy (including hydroxychloroquine, chloroquine,thioridazine, and deferoxamine)
Ocular Exclusion Criteria
If either eye has any of the following, the patient is not eligible:
We will not share your information with anyone other than the team in charge of this study. Submitting your contact information does not obligate you to participate in research.
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If you do not hear from the study team, please call 888-689-8273 and tell them you’re interested in study number NCT03146078.
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